Canonical Allele Identifier: CA2683548848
Gene: PCLO HGNC NCBI

Linked Data

gnomAD v4: 7-82824205-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.82824205A>C , CM000669.2:g.82824205A>C GRCh38
NC_000007.13:g.82453521A>C , CM000669.1:g.82453521A>C GRCh37
NC_000007.12:g.82291457A>C NCBI36
NG_047145.1:g.343677T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000333891.14:c.14596+31T>G MANE Select ENSP00000334319.8:n.14596+31T>G
ENST00000333891.13:c.14596+31T>G ENSP00000334319.8:n.14596+31T>G
ENST00000423517.6:c.14596+31T>G ENSP00000388393.2:n.14596+31T>G
ENST00000426442.6:n.1091+31T>G
ENST00000618073.1:c.859+31T>G ENSP00000482390.1:n.859+31T>G
NM_014510.2:c.14596+31T>G NP_055325.2:n.14596+31T>G
NM_033026.5:c.14596+31T>G NP_149015.2:n.14596+31T>G
XM_017012006.2:c.7501+31T>G XP_016867495.1:n.7501+31T>G
XM_017012007.1:c.7474+31T>G XP_016867496.1:n.7474+31T>G
XR_001744643.2:n.16165+31T>G
NM_033026.6:c.14596+31T>G MANE Select NP_149015.2:n.14596+31T>G
NM_014510.3:c.14596+31T>G NP_055325.2:n.14596+31T>G